Canonical Allele Identifier: CA381676503

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058621231
• gnomAD v4: 11-70473360-G-T
• MyVariant Identifiers: chr11:g.70319465G>T (hg19) ; chr11:g.70473360G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473360G>T , CM000673.2:g.70473360G>T	GRCh38
NC_000011.9:g.70319465G>T , CM000673.1:g.70319465G>T	GRCh37
NC_000011.8:g.69997113G>T	NCBI36
NG_042866.1:g.656437C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3292C>A	ENSP00000345193.7:p.Pro1098Thr
ENST00000412252.6:c.837C>A	ENSP00000414876.2:n.837C>A
ENST00000601538.6:c.5059C>A MANE Select	ENSP00000469689.2:p.Pro1687Thr
ENST00000654939.1:c.2568C>A
ENST00000656230.1:c.3922C>A	ENSP00000499561.1:p.Pro1308Thr
ENST00000659264.1:c.3349C>A	ENSP00000499270.1:p.Pro1117Thr
ENST00000338508.8:c.3295C>A	ENSP00000345193.6:p.Pro1099Thr
ENST00000357171.7:c.*63C>A	ENSP00000349694.4:n.*63C>A
ENST00000409161.5:c.3271C>A	ENSP00000386491.1:p.Pro1091Thr
ENST00000412252.5:c.835C>A
ENST00000423696.6:c.3922C>A	ENSP00000394536.2:p.Pro1308Thr
ENST00000424924.5:c.2896C>A	ENSP00000402944.1:p.Pro966Thr
ENST00000449833.6:c.3295C>A	ENSP00000399423.3:p.Pro1099Thr
ENST00000601538.5:c.5059C>A	ENSP00000469689.2:p.Pro1687Thr
ENST00000606715.3:n.1811C>A
NM_012309.4:c.5059C>A	NP_036441.2:p.Pro1687Thr
NM_133266.4:c.3295C>A	NP_573573.2:p.Pro1099Thr
NR_110766.1:n.913C>A
XM_005277930.2:c.5059C>A	XP_005277987.1:p.Pro1687Thr
XM_005277932.2:c.3922C>A	XP_005277989.1:p.Pro1308Thr
XM_006718478.2:c.5029C>A	XP_006718541.1:p.Pro1677Thr
XM_011544854.1:c.5071C>A	XP_011543156.1:p.Pro1691Thr
XM_011544855.1:c.5050C>A	XP_011543157.1:p.Pro1684Thr
XM_011544856.1:c.5044C>A	XP_011543158.1:p.Pro1682Thr
XM_011544857.1:c.5023C>A	XP_011543159.1:p.Pro1675Thr
XM_011544859.1:c.3934C>A	XP_011543161.1:p.Pro1312Thr
XM_005277932.3:c.3922C>A	XP_005277989.1:p.Pro1308Thr
XM_017017387.1:c.5059C>A	XP_016872876.1:p.Pro1687Thr
XM_017017388.1:c.5059C>A	XP_016872877.1:p.Pro1687Thr
XM_017017389.1:c.5032C>A	XP_016872878.1:p.Pro1678Thr
XM_017017390.1:c.3349C>A	XP_016872879.1:p.Pro1117Thr
NM_133266.5:c.3295C>A	NP_573573.2:p.Pro1099Thr
NR_110766.2:n.914C>A
NM_001379226.1:c.3922C>A	NP_001366155.1:p.Pro1308Thr
NM_012309.5:c.5059C>A MANE Select	NP_036441.2:p.Pro1687Thr